Portal de investigação
Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant
Data de publicação:
Data Ahead of Print:
Autores da FMUP
Participantes de fora da FMUP
- Ferreira, F
- Bacelar, CG
- Lisboa-Gonçalves, P
- Paulo, N
- Quental, R
- Nunes, AT
- Silva, R
Unidades de investigação
Abstract
Mitochondrial diseases are a phenotype and genotype heterogeneous group of disorders that typically have a multisystemic involvement. The m.3243A>G pathogenic variant is the most frequent mitochondrial DNA defect, and it causes several different clinical syndromes, such as mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and the maternally inherited diabetes and deafness (MIDD) syndromes. Not frequently reported, renal involvement in these diseases is probably under estimated, yet it increases morbidity. It generally manifests as subnephrotic proteinuria and progressive deterioration of kidney function. Adult presentation of mitochondrial diseases is hard to recognize, especially in oligosymptomatic patients or those with exclusive kidney involvement. However, suspicion should always arise when family history, particularly on the maternal side, and multisystemic symptoms, most often of the central nervous system and skeletal muscles, are present. In this review we discuss the clinical diagnosis and approach of patients with renal manifestations in the context of the mtDNA m.3243A>G pathogenic variant. (c) 2023 Sociedad Espanola de Nefrolog ' ia. Published by Elsevier Espana, S.L.U.
Dados da publicação
- ISSN/ISSNe:
- 1989-2284, 0211-6995
- Tipo:
- Review
- Páginas:
- 1-7
Nefrologia Elsevier Espana
Documentos
- Não há documentos
Filiações
Keywords
- Focal segmental glomerulosclerosis; mtDNA m.3243A > G; MELAS syndrome; Mitochondrial diseases; Renal disease
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Citar a publicação
Ferreira F,Bacelar CG,Lisboa P,Paulo N,Quental R,Nunes AT,Silva R,Tavares I. Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant. Nefrologia. 2023. 43p. 1-7. IF:2,600. (3).
